G201S (p.Gly201Ser) variant of SGCA (Alpha-sarcoglycan)
G201S (p.Gly201Ser) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G201S (p.Gly201Ser) variant details
- p.Gly201Ser
- rs2144498121
- ClinGen CA400180368
- ClinVar RCV002013697
- Ensembl rs2144498121
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.95
- CADD 33.00
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available